Canonical Allele Identifier: CA1066140455
Gene:

Linked Data

dbSNP Id: rs1738884715
gnomAD v3: 4-102499830-G-A
gnomAD v4: 4-102499830-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499830G>A , CM000666.2:g.102499830G>A GRCh38
NC_000004.11:g.103420987G>A , CM000666.1:g.103420987G>A GRCh37
NC_000004.10:g.103640019G>A NCBI36
NG_050628.1:g.3502G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1419C>T XP_011530769.1:n.643+1419C>T
NR_136202.1:n.48+2609C>T
Search 100 bp 5'
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